POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS

Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable...

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Detalles Bibliográficos
Autores principales: Ibañez, Kristina, Jadhav, Bharati, Facchini, Stefano, Garg, Paras, Zanovello, Matteo, Martin-Trujillo, Alejandro, Gies, Scott J, Deforie, Valentina Galassi, Gagliardi, Delia, Hensman, Davina, Moutsianas, Loukas, Shoai, Maryam, Caulfield, Mark J, Cortese, Andrea, Escott-Price, Valentina, Hardy, John, Houlden, Henry, Sharp, Andrew J, Tucci, Arianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10350132/
https://www.ncbi.nlm.nih.gov/pubmed/37461547
http://dx.doi.org/10.1101/2023.07.03.23292162

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